SNP Links for Protein (Select 333360873) - SNP

Links from Protein

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Select item 14902970181.

rs1490297018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:72548681 (GRCh38)
4:73414398 (GRCh37)
Canonical SPDI:: NC_000004.12:72548680:G:A
Gene:: ADAMTS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.72548681G>A, NC_000004.11:g.73414398G>A, NG_046955.1:g.25119C>T, NM_014243.3:c.301C>T, NM_014243.2:c.301C>T, XM_011532422.4:c.217C>T, XM_011532422.3:c.217C>T, XM_011532422.2:c.217C>T, XM_011532422.1:c.217C>T, XM_011532421.2:c.244C>T, XM_011532421.1:c.244C>T

Select item 14900059932.

rs1490005993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:72283152 (GRCh38)
4:73148869 (GRCh37)
Canonical SPDI:: NC_000004.12:72283151:G:T
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.72283152G>T, NC_000004.11:g.73148869G>T, NG_046955.1:g.290648C>A, NM_014243.3:c.3602C>A, NM_014243.2:c.3602C>A, XM_011532422.4:c.3518C>A, XM_011532422.3:c.3518C>A, XM_011532422.2:c.3518C>A, XM_011532422.1:c.3518C>A, XM_011532421.2:c.3545C>A, XM_011532421.1:c.3545C>A, NP_055058.2:p.Ser1201Tyr, XP_011530724.1:p.Ser1173Tyr, XP_011530723.1:p.Ser1182Tyr

Select item 14888610913.

rs1488861091 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:72313821 (GRCh38)
4:73179539 (GRCh37)
Canonical SPDI:: NC_000004.12:72313821:A:AA
Gene:: ADAMTS3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72313822dup, NC_000004.11:g.73179539dup, NG_046955.1:g.259978dup, NM_014243.3:c.1600dup, NM_014243.2:c.1600dup, XM_011532422.4:c.1516dup, XM_011532422.3:c.1516dup, XM_011532422.2:c.1516dup, XM_011532422.1:c.1516dup, XM_011532421.2:c.1543dup, XM_011532421.1:c.1543dup, NP_055058.2:p.Trp534fs, XP_011530724.1:p.Trp506fs, XP_011530723.1:p.Trp515fs

Select item 14881541384.

rs1488154138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:72311123 (GRCh38)
4:73176840 (GRCh37)
Canonical SPDI:: NC_000004.12:72311122:C:T
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.72311123C>T, NC_000004.11:g.73176840C>T, NG_046955.1:g.262677G>A, NM_014243.3:c.1980G>A, NM_014243.2:c.1980G>A, XM_011532422.4:c.1896G>A, XM_011532422.3:c.1896G>A, XM_011532422.2:c.1896G>A, XM_011532422.1:c.1896G>A, XM_011532421.2:c.1923G>A, XM_011532421.1:c.1923G>A, NP_055058.2:p.Met660Ile, XP_011530724.1:p.Met632Ile, XP_011530723.1:p.Met641Ile

Select item 14877051995.

rs1487705199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:72548743 (GRCh38)
4:73414460 (GRCh37)
Canonical SPDI:: NC_000004.12:72548742:A:G
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.72548743A>G, NC_000004.11:g.73414460A>G, NG_046955.1:g.25057T>C, NM_014243.3:c.239T>C, NM_014243.2:c.239T>C, XM_011532422.4:c.155T>C, XM_011532422.3:c.155T>C, XM_011532422.2:c.155T>C, XM_011532422.1:c.155T>C, XM_011532421.2:c.182T>C, XM_011532421.1:c.182T>C, NP_055058.2:p.Leu80Ser, XP_011530724.1:p.Leu52Ser, XP_011530723.1:p.Leu61Ser

Select item 14868699136.

rs1486869913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:72323019 (GRCh38)
4:73188736 (GRCh37)
Canonical SPDI:: NC_000004.12:72323018:C:T
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.72323019C>T, NC_000004.11:g.73188736C>T, NG_046955.1:g.250781G>A, NM_014243.3:c.940G>A, NM_014243.2:c.940G>A, XM_011532422.4:c.856G>A, XM_011532422.3:c.856G>A, XM_011532422.2:c.856G>A, XM_011532422.1:c.856G>A, XM_011532421.2:c.883G>A, XM_011532421.1:c.883G>A, NP_055058.2:p.Ala314Thr, XP_011530724.1:p.Ala286Thr, XP_011530723.1:p.Ala295Thr

Select item 14848355067.

rs1484835506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:72290892 (GRCh38)
4:73156609 (GRCh37)
Canonical SPDI:: NC_000004.12:72290891:G:A
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72290892G>A, NC_000004.11:g.73156609G>A, NG_046955.1:g.282908C>T, NM_014243.3:c.2894C>T, NM_014243.2:c.2894C>T, XM_011532422.4:c.2810C>T, XM_011532422.3:c.2810C>T, XM_011532422.2:c.2810C>T, XM_011532422.1:c.2810C>T, XM_011532421.2:c.2837C>T, XM_011532421.1:c.2837C>T, NP_055058.2:p.Pro965Leu, XP_011530724.1:p.Pro937Leu, XP_011530723.1:p.Pro946Leu

Select item 14842654678.

rs1484265467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:72313799 (GRCh38)
4:73179516 (GRCh37)
Canonical SPDI:: NC_000004.12:72313798:C:T
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.72313799C>T, NC_000004.11:g.73179516C>T, NG_046955.1:g.260001G>A, NM_014243.3:c.1623G>A, NM_014243.2:c.1623G>A, XM_011532422.4:c.1539G>A, XM_011532422.3:c.1539G>A, XM_011532422.2:c.1539G>A, XM_011532422.1:c.1539G>A, XM_011532421.2:c.1566G>A, XM_011532421.1:c.1566G>A, NP_055058.2:p.Met541Ile, XP_011530724.1:p.Met513Ile, XP_011530723.1:p.Met522Ile

Select item 14833020799.

rs1483302079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:72283655 (GRCh38)
4:73149372 (GRCh37)
Canonical SPDI:: NC_000004.12:72283654:C:A
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72283655C>A, NC_000004.11:g.73149372C>A, NG_046955.1:g.290145G>T, NM_014243.3:c.3099G>T, NM_014243.2:c.3099G>T, XM_011532422.4:c.3015G>T, XM_011532422.3:c.3015G>T, XM_011532422.2:c.3015G>T, XM_011532422.1:c.3015G>T, XM_011532421.2:c.3042G>T, XM_011532421.1:c.3042G>T, NP_055058.2:p.Leu1033Phe, XP_011530724.1:p.Leu1005Phe, XP_011530723.1:p.Leu1014Phe

Select item 148166770910.

rs1481667709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:72311108 (GRCh38)
4:73176825 (GRCh37)
Canonical SPDI:: NC_000004.12:72311107:A:G
Gene:: ADAMTS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.72311108A>G, NC_000004.11:g.73176825A>G, NG_046955.1:g.262692T>C, NM_014243.3:c.1995T>C, NM_014243.2:c.1995T>C, XM_011532422.4:c.1911T>C, XM_011532422.3:c.1911T>C, XM_011532422.2:c.1911T>C, XM_011532422.1:c.1911T>C, XM_011532421.2:c.1938T>C, XM_011532421.1:c.1938T>C

Select item 148050107311.

rs1480501073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:72548555 (GRCh38)
4:73414272 (GRCh37)
Canonical SPDI:: NC_000004.12:72548554:G:A
Gene:: ADAMTS3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72548555G>A, NC_000004.11:g.73414272G>A, NG_046955.1:g.25245C>T, NM_014243.3:c.427C>T, NM_014243.2:c.427C>T, XM_011532422.4:c.343C>T, XM_011532422.3:c.343C>T, XM_011532422.2:c.343C>T, XM_011532422.1:c.343C>T, XM_011532421.2:c.370C>T, XM_011532421.1:c.370C>T, NP_055058.2:p.Gln143Ter, XP_011530724.1:p.Gln115Ter, XP_011530723.1:p.Gln124Ter

Select item 148003254912.

rs1480032549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:72290977 (GRCh38)
4:73156694 (GRCh37)
Canonical SPDI:: NC_000004.12:72290976:G:A
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.72290977G>A, NC_000004.11:g.73156694G>A, NG_046955.1:g.282823C>T, NM_014243.3:c.2809C>T, NM_014243.2:c.2809C>T, XM_011532422.4:c.2725C>T, XM_011532422.3:c.2725C>T, XM_011532422.2:c.2725C>T, XM_011532422.1:c.2725C>T, XM_011532421.2:c.2752C>T, XM_011532421.1:c.2752C>T, NP_055058.2:p.Leu937Phe, XP_011530724.1:p.Leu909Phe, XP_011530723.1:p.Leu918Phe

Select item 147840380613.

rs1478403806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:72313767 (GRCh38)
4:73179484 (GRCh37)
Canonical SPDI:: NC_000004.12:72313766:C:T
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72313767C>T, NC_000004.11:g.73179484C>T, NG_046955.1:g.260033G>A, NM_014243.3:c.1655G>A, NM_014243.2:c.1655G>A, XM_011532422.4:c.1571G>A, XM_011532422.3:c.1571G>A, XM_011532422.2:c.1571G>A, XM_011532422.1:c.1571G>A, XM_011532421.2:c.1598G>A, XM_011532421.1:c.1598G>A, NP_055058.2:p.Gly552Asp, XP_011530724.1:p.Gly524Asp, XP_011530723.1:p.Gly533Asp

Select item 147610736414.

rs1476107364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:72315916 (GRCh38)
4:73181633 (GRCh37)
Canonical SPDI:: NC_000004.12:72315915:T:C
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.72315916T>C, NC_000004.11:g.73181633T>C, NG_046955.1:g.257884A>G, NM_014243.3:c.1541A>G, NM_014243.2:c.1541A>G, XM_011532422.4:c.1457A>G, XM_011532422.3:c.1457A>G, XM_011532422.2:c.1457A>G, XM_011532422.1:c.1457A>G, XM_011532421.2:c.1484A>G, XM_011532421.1:c.1484A>G, NP_055058.2:p.Tyr514Cys, XP_011530724.1:p.Tyr486Cys, XP_011530723.1:p.Tyr495Cys

Select item 147584143215.

rs1475841432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:72298277 (GRCh38)
4:73163994 (GRCh37)
Canonical SPDI:: NC_000004.12:72298276:C:T
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72298277C>T, NC_000004.11:g.73163994C>T, NG_046955.1:g.275523G>A, NM_014243.3:c.2590G>A, NM_014243.2:c.2590G>A, XM_011532422.4:c.2506G>A, XM_011532422.3:c.2506G>A, XM_011532422.2:c.2506G>A, XM_011532422.1:c.2506G>A, XM_011532421.2:c.2533G>A, XM_011532421.1:c.2533G>A, NP_055058.2:p.Gly864Ser, XP_011530724.1:p.Gly836Ser, XP_011530723.1:p.Gly845Ser

Select item 147475251016.

rs1474752510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:72283665 (GRCh38)
4:73149382 (GRCh37)
Canonical SPDI:: NC_000004.12:72283664:A:C
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.72283665A>C, NC_000004.11:g.73149382A>C, NG_046955.1:g.290135T>G, NM_014243.3:c.3089T>G, NM_014243.2:c.3089T>G, XM_011532422.4:c.3005T>G, XM_011532422.3:c.3005T>G, XM_011532422.2:c.3005T>G, XM_011532422.1:c.3005T>G, XM_011532421.2:c.3032T>G, XM_011532421.1:c.3032T>G, NP_055058.2:p.Met1030Arg, XP_011530724.1:p.Met1002Arg, XP_011530723.1:p.Met1011Arg

Select item 147378169417.

rs1473781694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:72290907 (GRCh38)
4:73156624 (GRCh37)
Canonical SPDI:: NC_000004.12:72290906:G:T
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72290907G>T, NC_000004.11:g.73156624G>T, NG_046955.1:g.282893C>A, NM_014243.3:c.2879C>A, NM_014243.2:c.2879C>A, XM_011532422.4:c.2795C>A, XM_011532422.3:c.2795C>A, XM_011532422.2:c.2795C>A, XM_011532422.1:c.2795C>A, XM_011532421.2:c.2822C>A, XM_011532421.1:c.2822C>A, NP_055058.2:p.Pro960His, XP_011530724.1:p.Pro932His, XP_011530723.1:p.Pro941His

Select item 147372738118.

rs1473727381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:72548726 (GRCh38)
4:73414443 (GRCh37)
Canonical SPDI:: NC_000004.12:72548725:C:A
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72548726C>A, NC_000004.11:g.73414443C>A, NG_046955.1:g.25074G>T, NM_014243.3:c.256G>T, NM_014243.2:c.256G>T, XM_011532422.4:c.172G>T, XM_011532422.3:c.172G>T, XM_011532422.2:c.172G>T, XM_011532422.1:c.172G>T, XM_011532421.2:c.199G>T, XM_011532421.1:c.199G>T, NP_055058.2:p.Ala86Ser, XP_011530724.1:p.Ala58Ser, XP_011530723.1:p.Ala67Ser

Select item 147312813819.

rs1473128138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:72311129 (GRCh38)
4:73176846 (GRCh37)
Canonical SPDI:: NC_000004.12:72311128:A:C
Gene:: ADAMTS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.72311129A>C, NC_000004.11:g.73176846A>C, NG_046955.1:g.262671T>G, NM_014243.3:c.1974T>G, NM_014243.2:c.1974T>G, XM_011532422.4:c.1890T>G, XM_011532422.3:c.1890T>G, XM_011532422.2:c.1890T>G, XM_011532422.1:c.1890T>G, XM_011532421.2:c.1917T>G, XM_011532421.1:c.1917T>G

Select item 147195658320.

rs1471956583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:72283244 (GRCh38)
4:73148961 (GRCh37)
Canonical SPDI:: NC_000004.12:72283243:A:C,NC_000004.12:72283243:A:G
Gene:: ADAMTS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/10 (GnomAD_exomes)
HGVS:: NC_000004.12:g.72283244A>C, NC_000004.12:g.72283244A>G, NC_000004.11:g.73148961A>C, NC_000004.11:g.73148961A>G, NG_046955.1:g.290556T>G, NG_046955.1:g.290556T>C, NM_014243.3:c.3510T>G, NM_014243.3:c.3510T>C, NM_014243.2:c.3510T>G, NM_014243.2:c.3510T>C, XM_011532422.4:c.3426T>G, XM_011532422.4:c.3426T>C, XM_011532422.3:c.3426T>G, XM_011532422.3:c.3426T>C, XM_011532422.2:c.3426T>G, XM_011532422.2:c.3426T>C, XM_011532422.1:c.3426T>G, XM_011532422.1:c.3426T>C, XM_011532421.2:c.3453T>G, XM_011532421.2:c.3453T>C, XM_011532421.1:c.3453T>G, XM_011532421.1:c.3453T>C, NP_055058.2:p.Phe1170Leu, XP_011530724.1:p.Phe1142Leu, XP_011530723.1:p.Phe1151Leu

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